Human Genetics
Code: 100750 ECTS Credits: 6| Degree | Type | Year | Semester |
|---|---|---|---|
| 2500250 Biology | OT | 4 | 0 |
Contact
- Name:
- Gemma Armengol Rosell
- Email:
- Gemma.Armengol@uab.cat
Use of Languages
- Principal working language:
- catalan (cat)
- Some groups entirely in English:
- No
- Some groups entirely in Catalan:
- Yes
- Some groups entirely in Spanish:
- No
Prerequisites
To have basic knowledge on genetics.
Objectives and Contextualisation
Human Genetics studies the phenomena of heredity and variation both normal and pathological on human species. It is a fundamental and applied subject that integrates all levels of organization, from molecular genetics to evolution genetics.
The main objectives of this course are: understanding the rules and the mechanisms of inheritance, the knowledge of genome variability (normal and pathological) in individuals and human populations and the factors responsible for it, the ability to perform tests for genetic diseases, knowing their treatment and ethical aspects that are derived from treatment, and finally the application of knowledge obtained for development of research projects.
Competences
- Act with ethical responsibility and respect for fundamental rights and duties, diversity and democratic values.
- Be able to analyse and synthesise
- Be able to organise and plan.
- Control processes and provide services related to biology.
- Design and carry out biodiagnoses and identify and use bioindicators.
- Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands.
- Perform genetic analyses.
- Students must be capable of applying their knowledge to their work or vocation in a professional way and they should have building arguments and problem resolution skills within their area of study.
- Students must be capable of collecting and interpreting relevant data (usually within their area of study) in order to make statements that reflect social, scientific or ethical relevant issues.
- Students must be capable of communicating information, ideas, problems and solutions to both specialised and non-specialised audiences.
- Students must develop the necessary learning skills to undertake further training with a high degree of autonomy.
- Students must have and understand knowledge of an area of study built on the basis of general secondary education, and while it relies on some advanced textbooks it also includes some aspects coming from the forefront of its field of study.
- Take account of social, economic and environmental impacts when operating within one's own area of knowledge.
- Take sex- or gender-based inequalities into consideration when operating within one's own area of knowledge.
- Understand heredity mechanisms and the fundamentals of genetic improvement.
- Understand the processes that determine the functioning of living beings in each of their levels of organisation.
Learning Outcomes
- Analyse a situation and identify its points for improvement.
- Analyse the sex- or gender-based inequalities and the gender biases present in one's own area of knowledge.
- Analyse the sustainability indicators of the academic and professional activities within the area, integrating the social, economic and environmental dimensions.
- Be able to analyse and synthesise.
- Be able to organise and plan.
- Critically analyse the principles, values and procedures that govern the exercise of the profession.
- Describe heredity patterns and calculate the risk of recurrence of human diseases.
- Identify the natural and artificial factors that affect human health.
- Identify the underlying genetic causes of development and of congenital defects in humans.
- Interact with and advise government institutions operating in the field of social policy and population and public health policy.
- Interpret human variability as a source of individualisation.
- Propose new methods or well-founded alternative solutions.
- Propose projects and actions that incorporate the gender perspective.
- Propose ways to evaluate projects and actions for improving sustainability.
- Recognise the anomalies of human chromosomes and assess their consequences.
- Students must be capable of applying their knowledge to their work or vocation in a professional way and they should have building arguments and problem resolution skills within their area of study.
- Students must be capable of collecting and interpreting relevant data (usually within their area of study) in order to make statements that reflect social, scientific or ethical relevant issues.
- Students must be capable of communicating information, ideas, problems and solutions to both specialised and non-specialised audiences.
- Students must develop the necessary learning skills to undertake further training with a high degree of autonomy.
- Students must have and understand knowledge of an area of study built on the basis of general secondary education, and while it relies on some advanced textbooks it also includes some aspects coming from the forefront of its field of study.
Content
Chapter 1. Organization of the human genome
Chapter 2. Chromosomal alterations
Chapter 3. Mutations and polymorphisms .
Chapter 4. Mapping and identifying genes related to diseases
Chapter 5. Epigenetics
Chapter 6. Developmental genetics
Chapter 7. Cancer Genetics
Chapter 8. Pharmacogenetics
Chapter 9. Nutritional Genomics
Chapter 10. Forensic Genetics
Chapter 11. Prenatal Diagnosis
Chapter 12. Tests for genetic diseases and genetic counseling
Chapter 13. Treatment of genetic diseases
Chapter 14. Ethical issues in human genetics
*Unless the requirements enforced by the health authorities demand a prioritization or reduction of these contents
Methodology
The teaching methodology will benefit from the tools provided by the Virtual Campus of the UAB. To achieve the objectives of the subject, three types of learning activities are proposed: sessions with the all students, seminars with half of the students and autonomous work in groups on an scientific paper.
Sessions with all students: The students acquire their own knowledge of the subject attending the classes, complementing them with the personal study. These classes are designed as lecture sessions by the teaching staff but also the active participation of students is encouraged to establish discussions or collective reflections. In the classes, digital presentations are used to help the understanding of the contents, which are available on the UAB virtual campus.
Seminars: The knowledge developed in sessions with all students and worked in the personal study is applied to the resolution of practical cases and in the discussion of original research papers published in international journals. Practical cases arise in the form of problems or questions, which are worked on small groups. These type of methodology allow us to reinforce and deepen the topics studied in the sessions with all students.
Autonomous work in small groups on an article: It is proposed to carry out a work in small groups that is prepared outside the classroom and that involves tasks of documentation and group discussion on a topic of human genetics. Tutorials will guide students on how to do this work.
*The proposed teaching methodology may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities
Activities
| Title | Hours | ECTS | Learning Outcomes |
|---|---|---|---|
| Type: Directed | |||
| Seminars | 15 | 0.6 | 6, 3, 2, 1, 7, 8, 9, 11, 14, 12, 20, 19, 18, 16, 17, 15, 4, 5 |
| Sessions with all students | 30 | 1.2 | 6, 3, 2, 1, 7, 8, 9, 11, 14, 12, 13, 20, 19, 18, 16, 17, 15, 4, 5 |
| Type: Supervised | |||
| Tutorials | 5 | 0.2 | 6, 2, 1, 14, 12, 13, 20, 16, 17, 4, 5 |
| Type: Autonomous | |||
| Document research | 5 | 0.2 | 6, 1, 20, 16, 17, 4, 5 |
| Personal study | 45 | 1.8 | 1, 7, 8, 9, 11, 20, 19, 16, 17, 15, 4, 5 |
| Problem preparation | 15 | 0.6 | 1, 7, 8, 9, 11, 20, 18, 16, 17, 15, 4, 5 |
| Report writing | 15 | 0.6 | 6, 2, 1, 7, 8, 9, 11, 14, 12, 20, 19, 18, 16, 17, 15, 4, 5 |
| Text reading | 17 | 0.68 | 6, 20, 19, 17, 4, 5 |
Assessment
a) Two written tests: each test is 30% of the final mark. The minimum mark to pass the subject will be 5 in each test.
b) Handling works performed in the classes: 20% of the final grade.
c) Work in small groups: 20% of the final mark. In this evaluation we will take into account: the oral presentation (5%), the work (15%) and the adjustment to the limited time. The evaluation of the oral presentation will be individual but the others will be common to all the members of the group.
To be able to pass the subject, the minimum mark is 5. At the end of the course there will be a remedial test for those students who have failed or not attended any of the two written tests. To be eligible for the retake process, the student should have been previously evaluated in a set of activities equaling at least two thirds of the final score of the course. The student will be graded as "No Avaluable" if the weighthin of all conducted evaluation activities is less than 67% of the final score.
*Student’s assessment may experience some modifications depending on the restrictions to face-to-face activities enforced by health authorities.
Assessment Activities
| Title | Weighting | Hours | ECTS | Learning Outcomes |
|---|---|---|---|---|
| Handling works performed in the classes | 20% | 0 | 0 | 6, 3, 2, 1, 7, 8, 9, 10, 11, 14, 12, 13, 20, 19, 18, 16, 17, 15, 4, 5 |
| Working in groups | 20% | 0 | 0 | 7, 9, 11, 15, 4, 5 |
| Written test I | 30% | 1.5 | 0.06 | 7, 8, 9, 11, 15, 4, 5 |
| Written test II | 30% | 1.5 | 0.06 | 7, 8, 9, 11, 15, 4, 5 |
Bibliography
- Cummings MR. (2016). Human Heredity. Principles and Issues. 11ena edició. Thompson. Brooks/Cole. Belmont, EEUU.
- Jorde LB, Carey JC, Bamshad MJ (2016). Medical genetics. 5a edició. Elsevier. Philadelphia, EEUU.
- Lewis R. (2018). Human Genetics Concepts and Applications. 12a edició. McGraw-Hill Science. New York, EEUU.
- Nussbaum RL, McInnes RR i Willard HF. (2016). Thompson & Thompson Genetics in Medicine. 8a edició. Saunders Elsevier, Philadelphia, USA.
- Oriola J, Ballesta F, Clària J, Mengual L. (2013). Genètica Mèdica. Edicions Universitat de Barcelona. Barcelona.
- Solari AJ. (2011). Genética Humana. Fundamentos y Aplicaciones en Medicina. 5a edició. Médica Panamericana. Buenos Aires, Argentina.
- Strachan T i Read AP. (2018). Human Molecular Genetics. 5a edició. Garland Science, Taylor & Francis Group, New York, USA.
- Strachan T, Goodship J i Chinnery P. (2014). Genetics and Genomics in Medicine. 1ª edició. Garland Science, Taylor & Francis Group, New York, USA.
- Tobias ES, Connor M i Ferguson-Smith M. (2011). Essential Medical Genetics. 6a edició. Wiley-Blackwell, Oxford, Regne Unit.
- Turnpenny P i Ellard S. (2018). Emery Elements of Medical Genetics. 15a edició. Elsevier, Philadelphia, USA.
- Vogel and Motulsky’s Human Genetics, Problems and Approaches. (2010) 4a edició. Springer-Verlag Berlin Heidelberg, Alemanya.
- http://www.ncbi.nlm.nih.gov/omim
- http://ghr.nlm.nih.gov
- http://www.genome.gov